Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: SACS HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000507173.1:p.Asp2134Glu	CA387522100 ENST00000682944.1:c.6402T>G CA387522102 ENST00000682944.1:c.6402T>A